Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021831 (enteropathy)
 4,403 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have shown previously that amplification of chromosomal region 9q34 is the most frequent aberration in enteropathy-type T-cell lymphoma (ETL). To determine the minimum amplified 9q34 region and identify possible candidate gene(s), we performed a detailed microsatellite screening and quantitative real-time PCR (QPCR) on 26 ETL cases. Microsatellite analysis revealed allelic imbalance in both ABL1 and NOTCH1 gene loci (microsatellites D9S290-D9S1847 and D9S158 flanking the former and latter genes, respectively) localized in the band 9q34. The results were confirmed by TaqMan-based QPCR showing amplification of ABL1 and NOTCH1 exons in 50% and 65% of cases, respectively. Amplifications of the NOTCH1 gene were more frequent than of the ABL1 gene; moreover, the analyzed NOTCH1 exon consistently displayed higher levels of amplification than ABL1 coding sequences. From 9q34 known genes, NOTCH1 could thus be the primary target of genomic DNA amplification in ETL.
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PMID:Amplification of NOTCH1 and ABL1 gene loci is a frequent aberration in enteropathy-type T-cell lymphoma. 1575 89

A small proportion of coeliac disease (CD) patients fail to improve after a gluten-free diet (GFD) and may be considered as atypical regarding their outcome (refractory coeliac disease). The aim of this study is to diagnose and manage patients with CD who fail to improve after a GFD. Refractory coeliac disease (RCD) is a malabsorption syndrome defined by persisting villous atrophy with, usually, an increase of intraepithelial lymphocytes (IELs) in the small bowel in spite of a strict GFD and comprises a heterogenous group of diseases. Some of these diseases have to be excluded and can be treated by specific therapies like antibiotics in tropical sprue and giardiasis and immune globulin substitution in common variable immunodeficiency, while other malabsorption syndromes are less well defined and may require immunosuppressive therapy. Standardized treatment, however, has not been evaluated in such patients so far. In a subgroup of patients with RCD, an abnormal intraepithelial lymphocyte (IEL) population may be observed with the lack of surface expression of usual T-cell markers (CD3-CD8 and/or the T-cell receptor (TCR)) on IELs associated with T-cell clonality pattern suggest the presence of an early enteropathy-associated T-cell lymphoma (EATL) in a subgroup of patients with RCD. This hypothesis has been supported by studies, which revealed progression into overt intestinal T-cell lymphomas in a subgroup of RCD. Steroid treatment has been reported effective even in patients with underlying early EATL. However, long-term results are unsatisfactory in most of these patients with RCD and parenteral nutrition has to be applied in some of these cases. First results with more aggressive chemotherapies and use of cytokines are under way. Due to the difficulty of diagnostic and therapeutic regimens patients should be referred to tertiary centres for coeliac disease.
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PMID:Refractory coeliac disease. 1592 46

Capsule endoscopy is a new technology developed to investigate diseases of the small intestine. It has been shown to be superior to current modalities such as small-bowel radiography and enteroscopy. We describe a patient with long-standing celiac disease who presented with abdominal pain, diarrhea, and weight loss, after many years on a gluten-free diet. The symptom complex and results from small-bowel radiography and computerized tomography raised concern about progression to lymphoma, and ultimately a laparoscopy and small-bowel resection were done for diagnosis. A capsule endoscopy was performed to assess the extent of the patient's enteropathy-type intestinal T-cell lymphoma after three cycles of chemotherapy. We report the first use of capsule endoscopy in the setting of celiac disease associated enteropathy-type intestinal T-cell lymphoma. These endoscopic findings are correlated with those from gross and microscopic pathology and barium small-bowel radiography.
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PMID:Capsule endoscopy findings in celiac disease associated enteropathy-type intestinal T-cell lymphoma. 1593 38

Primary intestinal T-cell lymphomas account for about 5% of all primary gastrointestinal lymphomas and are mostly associated with coeliac disease. Intestinal lymphomas are usually discovered during the 4th to 5th decade and constitute an exceptional complication of coeliac disease. This lymphoma is generally a high grade pleomorphic cell lymphoma with large cells. Our case concerned a 30 year old woman with a history of coeliac disease who developed a gastro-enteromesenteric lymphoma. Anatomopathological and immunohistochemical analysis showed an enteropathy associated T-cell lymphoma. We suggest that patients with coeliac disease unresponsive to a gluten free diet or with deteriorating clinical condition be investigated for complications such as enteropathy associated T-cell lymphoma. It is also important to avoid this complication by detecting asymptomatic form of coeliac disease that needs a gluten-free diet.
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PMID:[Intestinal T cell lymphoma in coeliac disease. A case report]. 1604 9

A patient with coeliac disease developed a progressive cauda equina syndrome in the 2 months prior to his death, for which no cause could be identified. At post-mortem examination this proved to be due to disseminated enteropathy-type T-cell lymphoma. Although rare, disseminated enteropathy-type T-cell lymphoma should enter the differential diagnosis in any patient with coeliac disease developing new neurological signs.
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PMID:Disseminated enteropathy-type T-cell lymphoma: cauda equina syndrome complicating coeliac disease. 1620 26

Ulcerative jejunoileitis and enteropathy-associated T-cell lymphoma are rare conditions described in patients with refractory coeliac disease. Ulcerations affect the small bowel and are unrelated to drugs, ischaemia, infections or other known causes. We describe a female patient with an unclassified enteropathy who experienced several episodes of jejunoileal ulcerations. Several resections of the small bowel segments were necessary. The repetitive ulcerations were either from cytotoxic T cells, the patient developed a T-cell lymphoma, and malignant cells could be detected at the bottom of the ulcers, or from acid-producing cells in areas of gastric metaplasia. Two mechanisms might thus be responsible for the occurrence of repetitive ulceration, and require different treatment strategies. The patient is currently being treated with proton pump inhibitors, oral steroids and parenteral nutrition.
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PMID:Ulcerative jejunoileitis and enteropathy-associated T-cell lymphoma. 1629 96

Coeliac disease is a chronic inflammatory disease of the gut with increased risk of gastrointestinal malignancy. Although enteropathy T-cell lymphoma is the most common neoplasm in coeliacs, an increased frequency of small bowel carcinoma has been described. A case is described of jejunal carcinoma as first presentation of coeliac disease, in which gastrointestinal and extraintestinal symptoms of disease developed only after surgical resection and disappeared after gluten withdrawal.
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PMID:Small bowel adenocarcinoma as first presentation of coeliac disease. 1649 Oct 60

Ulcerative jejunoileitis (UJI) is a rare condition which usually develops in patients with established or simultaneously diagnosed coeliac disease (CD) and has been suggested to represent cryptic low-grade enteropathy-associated T-cell lymphoma (EATL). We report a case of a 78-year-old male patient with UJI and CD diagnosed at the same time. He presented with abdominal pain, diarrhoea and weight loss and had serological, endoscopical, radiological and histological findings compatible with the diagnoses of both UJI and CD. The possibility of EATL was carefully excluded. The patient exhibited significant symptomatic improvement with a gluten-free diet, probably indicating an early stage of disease despite his old age. In conclusion, this rather unusual case of an elderly patient presenting with UJI and CD without evidence of EATL supports the great heterogeneity of these diseases not only in their clinical presentation but even in their course and complications.
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PMID:Simultaneous diagnosis of ulcerative jejunoileitis and coeliac disease in an elderly man. 1649 97

Because of the wide variations in the clinical presentation of celiac disease and because treatment exists that is effective in most cases, screening of the general population for celiac disease has been considered. There is still no evidence that patients who have symptom-free celiac disease are at increased risk of small intestinal lymphoma or other complications. Prevention of osteoporosis seems to be the strongest indicator for widespread screening today [22]. The major cause of failure to respond to a gluten-free diet is continuing ingestion of gluten, but other underlying diseases must be considered. Many different drugs (eg, anti-tumor necrosis factor [TNF]-alpha) have been used in patients who have RCD [23]. Steroid treatment has been reported to be effective even in patients who have underlying early EATL. Histologic recovery in patients who have celiac disease usually takes several months but can take up to 1 year, even if the patient remains on a strict gluten-free diet. Some patients report celiac-related symptoms for months after a single gluten intake. The definitions for RCD in literature vary. The authors consider the definition give by Daum and colleagues [24] suitable. They defined true RCD as villous atrophy with crypt hyperplasia and increased IELs persisting for more than 12 months in spite of a strict gluten-free diet. If a patient is not responding well to a gluten-free diet, three considerations are necessary: (1) the initial diagnosis of celiac disease must be reassessed;(2) the patient should be sent to a dietician to check for errors in diet or compliance problems, because problems with the gluten-free diet are the most important cause for persisting symptoms; (3) other reasons for persisting symptoms (eg, pancreatic insufficiency, irritable bowel syndrome, bacterial overgrowth, lymphocytic colitis, collagenous colitis, ulcerative jejunitis, protein-losing enteropathy,T-cell lymphoma, fructose intolerance, cavitating lymphadenopathy, and tropical sprue) should be considered. Other causes for villous atrophy are Crohn's disease, collagenous sprue, and autoimmune enteropathy. Abdulkarim and colleagues [25] examined 55 patients who had a diagnosis of nonresponsive celiac disease. He found that 6 did not have celiac disease, and25 still had some gluten ingestion.Tursi and colleagues [26] reported 15 patients who had celiac disease with persisting symptoms. Because histology improved in all patients after several months, RCD was excluded. Of the 15 patients, 10 had small intestinal bacterial overgrowth, 2 showed lactose malabsorption causing the described symptoms, 1 had mistakenly taken an antibiotic containing gluten, and 1 patient each had Giardia lamblia and Ascaris lumbricoides. Thus, other entities must be considered in patients who have celiac disease and ongoing symptoms. In a follow-up clinical trial, 158 patients who had celiac disease underwent follow-up small intestine biopsies within 2 years after starting a gluten-free diet. Eleven patients (7.0%) with persisting (partial) villous atrophy were considered to have RCD; 5 of them developed EATL [27].RCD type I is characterized by normal expression of T-cell antigens and polyclonal TCR gene rearrangement.RCD type II is characterized by an abnormal IEL phenotype with the expression of intracytoplasmic CD3e, surface CD103, and the lack of classic surface T-cell markers such as CD8, CD4, and TCR-alpha/beta. This clonal IEL population can be considered crypt IEL [24]. RCD II has a poor prognosis, which is a problem for therapy. Clonal TCR gene rearrangements and loss of T-cell antigens such as CD8 and TCR-beta in IELs may indicate the development of an EATL in patients who have RCD. The markers for an overt EATL are a positive stool blood test, increased lactate dehydrogenase, or beta2-microglobulin [24]. If an overt lymphoma is suspected, upper and lower endoscopy, an ear, nose, and throat work-up, CT scan, capsule endoscopy, and possibly double-balloon enteroscopy should be performed. Most reports of the difficulties in treating patients who have true RCE are casereports. Turner and colleagues [28] reported on an induction of remission by useof the anti-TNF-alpha antibody infliximab and maintenance with prednisoloneand azathioprine. Olaussen and colleagues [29] and Mandal and colleagues [30]tried a nonimmunogenic elemental diet. Gillet and colleagues [31] reported successful treatment of a patient who hadRCD using anti-TNF-alpha antibodies (infliximab) for induction and azathioprinefor maintenance. Maurino and colleagues [32] studied seven consecutive patients diagnosed ashaving refractory sprue and no response to oral or parenteral steroids. Aftertreatment with azathioprine (2 mg/kg/d) and oral prednisone (1 mg/kg/d), fivepatients had a complete clinical remission. Two patients who did not respond totreatment at any time died. Goerres and colleagues [33] described 18 patients who had RCD, 10 of whomhad type I RCD, and 8 of whom had type II RCD. Treatment consisted ofazathioprine combined with prednisone for 1 year. Consistent with reports byother investigators, the response rates in the two groups differed. Eight of the10 patients who had type I RCD had a histologic response. Seven of the eightpatients who had type II RCD died, and six of the eight developed a lymphoma. At present there is no effective treatment for type II RCD.Fig. 3 presents a proposed algorithm for monitoring patients who have ce-liac disease.
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PMID:Monitoring nonresponsive patients who have celiac disease. 1687 29

Coeliac disease is an immune-mediated disorder resulting in nutrient malabsorption now thought to have a prevalence of between 1:100 and 1:200 in the UK population. Symptoms can include diarrhoea, steatorrhoea, abdominal bloating, cramps, flatulence, weight loss, weakness and fatigue. In addition to the morbidity associated with presenting symptoms, patients are also at increased risk of metabolic bone disease, enteropathy-associated T-cell lymphoma and other malignancies (gastric, oesophageal, bladder, breast, brain). There appears to be a strong genetic component to this disease. This article provides a short review of the historical, clinical and genetic aspects of this disease and highlights several findings from recent structural and molecular immunology studies. A model of the pathogenesis is proposed where the contributions of innate and adaptive immune systems are delineated and the essential dual roles of gliadin (from ingested gluten) in the initiation and maintenance of this disease are summarised. Finally, potential future therapeutic options based on this new understanding are discussed.
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PMID:The molecular basis of coeliac disease. 1682 Sep 91


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